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المؤلفون: Nicholas Keyi Sim, Azzam Ismail, Mark Busby, Spilker Cord
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 93:e2.232
مصطلحات موضوعية: Psychiatry and Mental health, Surgery, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1fc94a98d9071a68dee45368b8e8959fTest
https://doi.org/10.1136/jnnp-2022-abn2.81Test -
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المؤلفون: Mark Busby, Rita Barresi, L. Phillips, Tiziana Mongini, Hacer Durmus, Jonathan Baets, Fiona Norwood, Judith N Hudson, James Miller, Peter De Jonghe, Shahriar Nafissi, Katherine Johnson, Ana Töpf, Monkol Lek, Stojan Peric, Daniel G. MacArthur, Marta Bertoli, Willem De Ridder, Shirin Jamal-Omidi, Vidosava Rakocevic Stojanovic, Volker Straub, Tine Deconinck, Anna Łusakowska
المصدر: Journal of neurology, neurosurgery and psychiatry
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Myopathy, Ubiquitin-Protein Ligases, Nonsense mutation, Population, Ethnic Groups, Muscle disorder, Muscular Dystrophies, Frameshift mutation, Tripartite Motif Proteins, 03 medical and health sciences, Limb-Girdle, 0302 clinical medicine, Muscular Diseases, Missense mutation, Medicine, Humans, Muscular dystrophy, education, Exome sequencing, Muscle disease, education.field_of_study, Neuromuscular, Female, Magnetic Resonance Imaging, Middle Aged, Muscle, Skeletal, Muscular Dystrophies, Limb-Girdle, Mutation, Transcription Factors, business.industry, Skeletal, medicine.disease, 3. Good health, Psychiatry and Mental health, Muscle, Surgery, Neurology (clinical), Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28cfdfc1be3263ac26ee02f4f736fa0bTest
http://hdl.handle.net/2318/1786348Test -
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المؤلفون: Katherine, Johnson, Willem, De Ridder, Ana, Töpf, Marta, Bertoli, Lauren, Phillips, Peter, De Jonghe, Jonathan, Baets, Tine, Deconinck, Vidosava, Rakocevic Stojanovic, Stojan, Perić, Hacer, Durmus, Shirin, Jamal-Omidi, Shahriar, Nafissi, Tiziana, Mongini, Anna, Łusakowska, Mark, Busby, James, Miller, Fiona, Norwood, Judith, Hudson, Rita, Barresi, Monkol, Lek, Daniel G, MacArthur, Volker, Straub
المصدر: Journal of Neurology, Neurosurgery, and Psychiatry
مصطلحات موضوعية: Adult, Male, muscular dystrophy, Ubiquitin-Protein Ligases, Middle Aged, PostScript, Magnetic Resonance Imaging, Tripartite Motif Proteins, Muscular Diseases, Muscular Dystrophies, Limb-Girdle, muscle disease, Mutation, Ethnicity, Humans, Female, neuromuscular, Muscle, Skeletal, Transcription Factors, myopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5cea806501789d91ba89610e58505907Test
https://pubmed.ncbi.nlm.nih.gov/29921608Test -
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المؤلفون: Mark Busby
المصدر: Pacific Historical Review. 87:728-729
مصطلحات موضوعية: History, Archaeology, Transformation (music)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::055192768f6920c525f6c43f4ad71755Test
https://doi.org/10.1525/phr.2018.87.4.728Test -
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المؤلفون: Patrick F. Chinnery, John B Winer, Kate Bushby, Hanns Lochmüller, Helen Griffin, Aravind V Ramesh, Gerald Pfeffer, Anna Sarkozy, Mark Busby, Maria Elena Farrugia, Volker Straub, Ian J. Wilson, Rita Barresi, J. Hudson, Steven A. Hardy, Hedley C. A. Emsley, Hannah R Elliott, Ashok Raman, Sujit S. Vaidya, Aleksandar Radunovic, Rita Horvath, Chris Everett, Alec Ming
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 85:331-338
مصطلحات موضوعية: Adult, Male, Gerontology, Neuromuscular disease, Disease, medicine.disease_cause, Polymerase Chain Reaction, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Muscular Diseases, medicine, Humans, Connectin, Muscular dystrophy, Muscle, Skeletal, Myopathy, Aged, 030304 developmental biology, Sanger sequencing, Genetics, 0303 health sciences, Mutation, biology, business.industry, Genetic Diseases, Inborn, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Founder Effect, Pedigree, 3. Good health, Psychiatry and Mental health, Haplotypes, biology.protein, symbols, Female, Surgery, Titin, Neurology (clinical), medicine.symptom, Respiratory Insufficiency, business, 030217 neurology & neurosurgery, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37d2d0ec81da3874dc1712c05f2cd8fbTest
https://doi.org/10.1136/jnnp-2012-304728Test -
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المؤلفون: Rosaria Buccoliero, Mark Busby, Sibte Hasan, Samer Al-Hussayni, Stephen Halpin
المصدر: Brain Disorders & Therapy.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, biology, business.industry, biology.protein, Medicine, Effective treatment, Antibody, business, Bioinformatics, General Economics, Econometrics and Finance
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f81e66e322a5bc02eceb526b93b08fbfTest
https://doi.org/10.4172/2168-975x.1000166Test -
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المؤلفون: Mark Busby, Jeremy Cosgrove, Sayan Datta
المصدر: Clinical neurology and neurosurgery. 128
مصطلحات موضوعية: Adult, medicine.medical_specialty, Pediatrics, Heterozygote, Neuromuscular disease, Hearing Loss, Sensorineural, Bulbar Palsy, Progressive, Riboflavin, Ocular Motility Disorders, Brown–Vialetto–Van Laere syndrome, Internal medicine, medicine, Humans, Age of Onset, Bulbar palsy, business.industry, Membrane Transport Proteins, Heterozygote advantage, General Medicine, Opsoclonus, medicine.disease, Endocrinology, Mutation, Surgery, Female, Neurology (clinical), Age of onset, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a3cf3e47fd4800e23bb567309533396Test
https://pubmed.ncbi.nlm.nih.gov/25462087Test -
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المؤلفون: Mark Busby, Michael Donaghy
المصدر: Journal of Neurology. 250:714-724
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Neurology, business.industry, Mismatch negativity, Chronic inflammatory demyelinating polyneuropathy, Polyradiculoneuropathy, medicine.disease, Gastroenterology, Internal medicine, medicine, Etiology, Neurology (clinical), Paraproteins, business, Polyneuropathy, Multifocal motor neuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::03efd27f14d0751c5924562ec5656242Test
https://doi.org/10.1007/s00415-003-1068-2Test -
10كتاب إلكتروني
